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Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease

Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more...

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Bibliografische gegevens
Gepubliceerd in:Int J Mol Sci
Hoofdauteurs: Boentert, Matthias, Prigent, Hélène, Várdi, Katalin, Jones, Harrison N., Mellies, Uwe, Simonds, Anita K., Wenninger, Stephan, Barrot Cortés, Emilia, Confalonieri, Marco
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI 2016
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5085764/
https://ncbi.nlm.nih.gov/pubmed/27763517
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms17101735
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